Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

The University of Texas System (UT)

Status: Enrolling

Conditions: Paraganglioma; Associated Conditions; Other Cancer; Kidney Neoplasms; Thyroid Neoplasms; Inherited Cancer Syndrome; Bone Cancer; Pheochromocytoma

Treatments: Genetic: Genetic screening

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT03160274

5R01GM114102 (U.S. NIH Grant/Contract)

R01CA264248-04S2 (U.S. NIH Grant/Contract)

HSC20060069H

Details and patient eligibility

About

Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.

Full description

Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.

The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.

The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.

Enrollment: 2,000 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• diagnosis of pheochromocytoma and or paraganglioma
• family member with diagnosis of pheochromocytoma and or paraganglioma
• diagnosis of a pheochromocytoma- and or paraganglioma-associated condition
• family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition

Exclusion criteria

• unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition